Audiology and Speech Pathology - Research Publications
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ItemNo Preview AvailablePlug-and-play microphones for recording speech and voice with smart devices(KARGER, 2023-11-16)INTRODUCTION Smart devices are widely available and capable of quickly recording and uploading speech segments for health-related analysis. The switch from laboratory recordings with professional-grade microphone set ups to remote, smart device-based recordings offers immense potential for the scalability of voice assessment. Yet, a growing body of literature points to a wide heterogeneity among acoustic metrics for their robustness to variation in recording devices. The addition of consumer-grade plug-and-play microphones has been proposed as a possible solution. Our aim was to assess if the addition of consumer-grade plug-and-play microphones increase the acoustic measurement agreement between ultra-portable devices and a reference microphone. METHODS Speech was simultaneously recorded by a reference high-quality microphone commonly used in research, and by two configurations with plug-and-play microphones. Twelve speech-acoustic features were calculated using recordings from each microphone to determine the agreement intervals in measurements between microphones. Agreement intervals were then compared to expected deviations in speech in various neurological conditions. Each microphone's response to speech and to silence were characterized through acoustic analysis to explore possible reasons for differences in acoustic measurements between microphones. The statistical differentiation of two groups, neurotypical and people with Multiple Sclerosis, using metrics from each tested microphone was compared to that of the reference microphone. RESULTS The two consumer-grade plug-and-play microphones favoured high frequencies (mean centre of gravity difference ≥ +175.3Hz) and recorded more noise (mean difference in signal-to-noise ≤ -4.2dB) when compared to the reference microphone. Between consumer-grade microphones, differences in relative noise were closely related to distance between the microphone and the speaker's mouth. Agreement intervals between the reference and consumer-grade microphones remained under disease-expected deviations only for fundamental frequency (f0, agreement interval ≤0.06Hz), f0 instability (f0 CoV, agreement interval ≤0.05%) and for tracking of second formant movement (agreement interval ≤1.4Hz/millisecond). Agreement between microphones was poor for other metrics, particularly for fine timing metrics (mean pause length and pause length variability for various tasks). The statistical difference between the two groups of speakers was smaller with the plug-and-play than with the reference microphone. CONCLUSION Measurement of f0 and F2 slope were robust to variation in recording equipment while other acoustic metrics were not. Thus, the tested plug-and-play microphones should not be used interchangeably with professional-grade microphones for speech analysis. Plug-and-play microphones may assist in equipment standardization within speech studies, including remote or self-recording, possibly with small loss in accuracy and statistical power as observed in this study.
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ItemNo Preview AvailableExpanding the phenotype of Kleefstra syndrome: speech, language and cognition in 103 individuals(BMJ PUBLISHING GROUP, 2024-01-30)OBJECTIVES: Speech and language impairments are core features of the neurodevelopmental genetic condition Kleefstra syndrome. Communication has not been systematically examined to guide intervention recommendations. We define the speech, language and cognitive phenotypic spectrum in a large cohort of individuals with Kleefstra syndrome. METHOD: 103 individuals with Kleefstra syndrome (40 males, median age 9.5 years, range 1-43 years) with pathogenic variants (52 9q34.3 deletions, 50 intragenic variants, 1 balanced translocation) were included. Speech, language and non-verbal communication were assessed. Cognitive, health and neurodevelopmental data were obtained. RESULTS: The cognitive spectrum ranged from average intelligence (12/79, 15%) to severe intellectual disability (12/79, 15%). Language ability also ranged from average intelligence (10/90, 11%) to severe intellectual disability (53/90, 59%). Speech disorders occurred in 48/49 (98%) verbal individuals and even occurred alongside average language and cognition. Developmental regression occurred in 11/80 (14%) individuals across motor, language and psychosocial domains. Communication aids, such as sign and speech-generating devices, were crucial for 61/103 (59%) individuals including those who were minimally verbal, had a speech disorder or following regression. CONCLUSIONS: The speech, language and cognitive profile of Kleefstra syndrome is broad, ranging from severe impairment to average ability. Genotype and age do not explain the phenotypic variability. Early access to communication aids may improve communication and quality of life.
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ItemNo Preview AvailableStuttering associated with a pathogenic variant in the chaperone protein cyclophilin 40(OXFORD UNIV PRESS, 2023-12-01)Stuttering is a common speech disorder that interrupts speech fluency and tends to cluster in families. Typically, stuttering is characterized by speech sounds, words or syllables which may be repeated or prolonged and speech that may be further interrupted by hesitations or 'blocks'. Rare variants in a small number of genes encoding lysosomal pathway proteins have been linked to stuttering. We studied a large four-generation family in which persistent stuttering was inherited in an autosomal dominant manner with disruption of the cortico-basal-ganglia-thalamo-cortical network found on imaging. Exome sequencing of three affected family members revealed the PPID c.808C>T (p.Pro270Ser) variant that segregated with stuttering in the family. We generated a Ppid p.Pro270Ser knock-in mouse model and performed ex vivo imaging to assess for brain changes. Diffusion-weighted MRI in the mouse revealed significant microstructural changes in the left corticospinal tract, as previously implicated in stuttering. Quantitative susceptibility mapping also detected changes in cortico-striatal-thalamo-cortical loop tissue composition, consistent with findings in affected family members. This is the first report to implicate a chaperone protein in the pathogenesis of stuttering. The humanized Ppid murine model recapitulates network findings observed in affected family members.
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ItemA review of ultrasonic vocalizations in mice and how they relate to human speecha)(ACOUSTICAL SOC AMER AMER INST PHYSICS, 2023-08)Mice communicate through audible vocalizations, which are within the human hearing range, and ultrasonic vocalizations (USVs), which are above the upper limit of human hearing. USVs are produced by rodents in social contexts including pup separation, territorial, and courting assays. Like birdsong, an established model for human speech, USVs in mice have been used as a model for understanding human communication. Their utility as a model of social communication is illustrated in neurodevelopmental conditions with a genetic basis, like autism spectrum disorders and Rett syndrome. As mice do not exhibit clear visual cues when they vocalize, the source of vocalization is often assumed. Therefore, there is potential to better discern the true vocal contribution of individual mice if the upper limit of human hearing were to be extended. Currently, there are efforts to increase the precision of sound-localizing technology, which will develop our understanding of communication in mice and other animal models.
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ItemNo Preview AvailableDisease Delineation for Multiple Sclerosis, Friedreich Ataxia, and Healthy Controls Using Supervised Machine Learning on Speech Acoustics(IEEE-INST ELECTRICAL ELECTRONICS ENGINEERS INC, 2023)Neurodegenerative disease often affects speech. Speech acoustics can be used as objective clinical markers of pathology. Previous investigations of pathological speech have primarily compared controls with one specific condition and excluded comorbidities. We broaden the utility of speech markers by examining how multiple acoustic features can delineate diseases. We used supervised machine learning with gradient boosting (CatBoost) to delineate healthy speech from speech of people with multiple sclerosis or Friedreich ataxia. Participants performed a diadochokinetic task where they repeated alternating syllables. We subjected 74 spectral and temporal prosodic features from the speech recordings to machine learning. Results showed that Friedreich ataxia, multiple sclerosis and healthy controls were all identified with high accuracy (over 82%). Twenty-one acoustic features were strong markers of neurodegenerative diseases, falling under the categories of spectral qualia, spectral power, and speech rate. We demonstrated that speech markers can delineate neurodegenerative diseases and distinguish healthy speech from pathological speech with high accuracy. Findings emphasize the importance of examining speech outcomes when assessing indicators of neurodegenerative disease. We propose large-scale initiatives to broaden the scope for differentiating other neurological diseases and affective disorders.
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ItemNo Preview AvailableOptimising verbal fluency analysis in neurological patients with dysarthria: examples from Parkinson's disease and hereditary ataxia(TAYLOR & FRANCIS INC, 2023-05-28)BACKGROUND: Verbal fluency tests (VFTs) are widely used to assess cognitive-linguistic performance in neurological diseases. However, the influence of dysarthria on performance in tests requiring oral responses is unclear in ataxia and Parkinson's disease. OBJECTIVES: To determine the impact of dysarthria on VFT performance and evaluate the validity and reliability of alternative methods for analyzing VFT data. METHOD: Trained raters evaluated dysarthria using VFT recordings in people with ataxia (N = 61) or Parkinson's disease (PD; N = 69). Total Correct Items scores and qualitative parameters (intrusions, ambiguous verbalizations, perseverations, and interjections) were compared across semantic, phonemic, and alternating fluency tasks. Disease severity was considered as a covariate in the regression model. RESULTS: VFT dysarthria ratings correlated with the benchmark (ground truth) dysarthria scores derived from a monologue. Ambiguous responses resulting from unclear speech impeded the rater's ability to determine if a response was correct. Regression analysis indicated that more severe dysarthria ratings predicted diminished scores in all three tasks (semantic fluency, phonemic fluency and alternating fluency) in the ataxia group. The contribution of disease severity to semantic, phonemic and alternating fluency was reduced substantially in the ataxia group after accounting for dysarthria severity in the model in both groups. CONCLUSIONS: Dysarthria severity can be estimated based on speech samples derived from VFT. Dysarthria can lead to lower total correct items and is associated with more ambiguous verbalizations in VFT. Dysarthria severity should be considered when interpreting VFT performance in common movement disorders.
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ItemNo Preview AvailableQuantitative Speech Assessment in Ataxia-Consensus Recommendations by the Ataxia Global Initiative Working Group on Digital-Motor Markers(SPRINGER, 2023-10-28)Dysarthria is a common and debilitating symptom of many neurodegenerative diseases, including those resulting in ataxia. Changes to speech lead to significant reductions in quality of life, impacting the speaker in most daily activities. Recognition of its importance as an objective outcome measure in clinical trials for ataxia is growing. Its viability as an endpoint across the disease spectrum (i.e. pre-symptomatic onwards) means that trials can recruit ambulant individuals and later-stage individuals who are often excluded because of difficulty completing lower limb tasks. Here we discuss the key considerations for speech testing in clinical trials including hardware selection, suitability of tasks and their role in protocols for trials and propose a core set of tasks for speech testing in clinical trials. Test batteries could include forms suitable for remote short, sensitive and easy to use, with norms available in several languages. The use of artificial intelligence also could improve accuracy and automaticity of analytical pipelines in clinic and trials.
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ItemContent development and validation for a mobile application designed to train family caregivers in the use of music to support care of people living with dementia(FRONTIERS MEDIA SA, 2023-05-12)BACKGROUND: Music therapy is increasingly recognized as an effective support for people living with dementia. However, with incidences of dementia increasing, and limited availability of music therapists, there is a need for affordable and accessible ways that caregivers can learn to use music-therapy based strategies to support the people they care for. The MATCH project aims to address this by creating a mobile application that can train family caregivers in the use of music to support people living with dementia. METHODS: This study details the development and validation of training material for the MATCH mobile application. Training modules developed based on existing research were assessed by 10 experienced music therapist clinician-researchers, and seven family caregivers who had previously completed personalized training in music therapy strategies via the HOMESIDE project. Participants reviewed the content and scored each training module based on content (music therapists) and face (caregivers) validity scales. Descriptive statistics were used to calculate scores on the scales, while thematic analysis was used to analyze short-answer feedback. RESULTS: Participants scored the content as valid and relevant, however, they provided additional suggestions for improvement via short-answer feedback. CONCLUSION: The content developed for the MATCH application is valid and will be trailed by family caregivers and people living with dementia in a future study.
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ItemNo Preview AvailableIn-depth characterisation of a cohort of individuals with missense and loss-of-function variants disrupting FOXP2(BMJ PUBLISHING GROUP, 2023-06)BACKGROUND: Heterozygous disruptions of FOXP2 were the first identified molecular cause for severe speech disorder: childhood apraxia of speech (CAS), and yet few cases have been reported, limiting knowledge of the condition. METHODS: Here we phenotyped 28 individuals from 17 families with pathogenic FOXP2-only variants (12 loss-of-function, five missense variants; 14 males; aged 2 to 62 years). Health and development (cognitive, motor, social domains) were examined, including speech and language outcomes with the first cross-linguistic analysis of English and German. RESULTS: Speech disorders were prevalent (23/25, 92%) and CAS was most common (22/25, 88%), with similar speech presentations across English and German. Speech was still impaired in adulthood, and some speech sounds (eg, 'th', 'r', 'ch', 'j') were never acquired. Language impairments (21/25, 84%) ranged from mild to severe. Comorbidities included feeding difficulties in infancy (10/26, 38%), fine (13/26, 50%) and gross (13/26, 50%) motor impairment, anxiety (5/27, 19%), depression (6/27, 22%) and sleep disturbance (10/24, 42%). Physical features were common (22/27, 81%) but with no consistent pattern. Cognition ranged from average to mildly impaired and was incongruent with language ability; for example, seven participants with severe language disorder had average non-verbal cognition. CONCLUSIONS: Although we identify an increased prevalence of conditions like anxiety, depression and sleep disturbance, we confirm that the consequences of FOXP2 dysfunction remain relatively specific to speech disorder, as compared with other recently identified monogenic conditions associated with CAS. Thus, our findings reinforce that FOXP2 provides a valuable entry point for examining the neurobiological bases of speech disorder.
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ItemNo Preview AvailableInstrumental swallowing assessment in adults in residential aged care homes: Practice patterns and opportunities(WILEY, 2023-03-01)OBJECTIVE: To describe practice patterns in the use of instrumental swallowing assessment (ISA) for older adults in residential aged care homes (RACHs). METHODS: A retrospective audit of medical records of residents living in RACHs in Melbourne, Australia to extract data on speech-language pathologist (SLP) involvement, indications for ISA and ISA practice patterns. RESULTS: Medical files of 323 residents across four Melbourne facilities were reviewed. 36% (n = 115) of residents were referred to SLP for swallowing assessment. Referral to SLP was related to length of stay (U = 7393.00, p < 0.001), dementia status (χ2 [1] = 7.06, p = 0.008), texture modification (χ2 [1] = 93.34, p < 0.001) and an existing dysphagia diagnosis (χ2 [1] = 112.89, p < 0.001). There were no referrals for ISA and no instances of ISA being used. Among 115 residents who were referred to SLP for swallowing assessment, there were 33 instances where ISA might be clinically relevant according to ISA indicators. CONCLUSIONS: Instrumental swallowing assessment is not being used for the management of swallowing in RACHs in Australia despite a clinical need for ISA and a potential role for ISA to improve swallowing care quality. Lack of timely ISA may fail to meet the complex health-care needs of older adults living with dysphagia in RACHs, increasing their vulnerability to complications of dysphagia and its management.